Canonical Allele Identifier: CA2815519224
Gene: KIZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.21136605_21136617del , CM000682.2:g.21136605_21136617del GRCh38
NC_000020.10:g.21117246_21117258del , CM000682.1:g.21117246_21117258del GRCh37
NC_000020.9:g.21065246_21065258del NCBI36
NG_033122.1:g.15623_15635del
NG_033122.2:g.15626_15638del

Transcript Alleles

HGVS Amino-acid Change
ENST00000619189.5:c.315+53_315+65del MANE Select ENSP00000479542.1:n.315+53_315+65del
ENST00000611685.4:c.167-8960_167-8948del
ENST00000616848.4:c.6+4446_6+4458del ENSP00000480612.1:n.6+4446_6+4458del
ENST00000619189.4:c.315+53_315+65del ENSP00000479542.1:n.315+53_315+65del
ENST00000619574.4:c.169-8960_169-8948del ENSP00000484706.1:n.169-8960_169-8948del
ENST00000620553.2:n.371+53_371+65del
ENST00000620891.4:c.6+4446_6+4458del ENSP00000478019.1:n.6+4446_6+4458del
NM_001163022.1:c.6+4446_6+4458del NP_001156494.1:n.6+4446_6+4458del
NM_001163023.1:c.6+4446_6+4458del NP_001156495.1:n.6+4446_6+4458del
NM_001276389.1:c.169-8960_169-8948del NP_001263318.1:n.169-8960_169-8948del
NM_018474.4:c.315+53_315+65del NP_060944.3:n.315+53_315+65del
XM_011529296.1:c.315+53_315+65del XP_011527598.1:n.315+53_315+65del
XM_011529297.1:c.315+53_315+65del XP_011527599.1:n.315+53_315+65del
XM_011529298.1:c.315+53_315+65del XP_011527600.1:n.315+53_315+65del
XM_011529299.1:c.6+4446_6+4458del XP_011527601.1:n.6+4446_6+4458del
XR_937105.1:n.439+53_439+65del
NM_001163022.2:c.6+4446_6+4458del NP_001156494.1:n.6+4446_6+4458del
NM_001163023.2:c.6+4446_6+4458del NP_001156495.1:n.6+4446_6+4458del
NM_001276389.2:c.169-8960_169-8948del NP_001263318.1:n.169-8960_169-8948del
NM_001352434.1:c.315+53_315+65del NP_001339363.1:n.315+53_315+65del
NM_001352435.1:c.6+4446_6+4458del NP_001339364.1:n.6+4446_6+4458del
NM_001352436.1:c.-72+53_-72+65del NP_001339365.1:n.-72+53_-72+65del
NM_018474.5:c.315+53_315+65del NP_060944.3:n.315+53_315+65del
XM_011529296.3:c.315+53_315+65del XP_011527598.1:n.315+53_315+65del
XM_011529297.3:c.315+53_315+65del XP_011527599.1:n.315+53_315+65del
XM_011529299.3:c.6+4446_6+4458del XP_011527601.1:n.6+4446_6+4458del
XM_017027951.2:c.-72+53_-72+65del XP_016883440.1:n.-72+53_-72+65del
XM_017027952.2:c.6+4446_6+4458del XP_016883441.1:n.6+4446_6+4458del
XR_001754334.2:n.381+53_381+65del
XR_937105.3:n.381+53_381+65del
NM_018474.6:c.315+53_315+65del MANE Select NP_060944.3:n.315+53_315+65del
NM_001163022.3:c.6+4446_6+4458del NP_001156494.1:n.6+4446_6+4458del
NM_001163023.3:c.6+4446_6+4458del NP_001156495.1:n.6+4446_6+4458del
NM_001352434.2:c.315+53_315+65del NP_001339363.1:n.315+53_315+65del
NM_001352435.2:c.6+4446_6+4458del NP_001339364.1:n.6+4446_6+4458del
NM_001352436.2:c.-72+53_-72+65del NP_001339365.1:n.-72+53_-72+65del